Transcript #00023959

Transcript name transcript variant 1
Gene name MLH3 (mutL homolog 3 (E. coli))
Chromosome 14
Transcript - NCBI ID NM_001040108.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001035197.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

293 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

ClassClinical     
?/. 2 c.70C>G r.(?) p.(Gln24Glu) VUS
+/. 2 c.70C>G r.(?) p.(Gln24Glu) pathogenic
-/. 2 c.70C>G r.(?) p.(Gln24Glu) benign
-/. 2 c.70C>G r.(?) p.(Gln24Glu) benign
-/. 2 c.70C>G r.(?) p.(Gln24Glu) benign
+?/. 2 c.70C>G r.(?) p.(Gln24Glu) likely pathogenic
-?/. 2 c.70C>G r.(?) p.(Gln24Glu) likely benign
+/. 2 c.70C>G r.(?) p.(Gln24Glu) pathogenic
-/. 2 c.70C>G r.(?) p.(Gln24Glu) benign
-/. 2 c.70C>G r.(?) p.(Gln24Glu) benign
-/. 2 c.70C>G r.(?) p.(Gln24Glu) benign
+?/. 2 c.70C>G r.(?) p.(Gln24Glu) likely pathogenic
-?/. 2 c.70C>G r.(?) p.(Gln24Glu) likely benign
-/. - c.101T>C r.(?) p.(Ile34Thr) benign
?/. 2 c.220T>C r.(?) p.(Phe74Leu) VUS
?/. 2 c.220T>C r.(?) p.(Phe74Leu) VUS
?/. 2 c.277C>G r.(?) p.(Arg93Gly) VUS
?/. 2 c.277C>G r.(?) p.(Arg93Gly) VUS
?/. 2 c.359T>C r.(?) p.(Phe120Ser) VUS
+?/. 2 c.359T>C r.(?) p.(Phe120Ser) likely pathogenic
?/. 2 c.359T>C r.(?) p.(Phe120Ser) VUS
+?/. 2 c.359T>C r.(?) p.(Phe120Ser) likely pathogenic
?/. 2 c.408T>C r.(?) p.(=) VUS
?/. 2 c.408T>C r.(?) p.(=) VUS
?/. 2 c.444G>C r.(?) p.(=) VUS
?/. 2 c.444G>C r.(?) p.(=) VUS
-?/. 2 c.447T>C r.(?) p.(=) likely benign
?/. 2 c.447T>C r.(?) p.(=) VUS
-?/. 2 c.447T>C r.(?) p.(=) likely benign
?/. - c.666G>A r.(?) p.(=) VUS
?/. 2 c.666G>A r.(?) p.(=) VUS
?/. 2 c.691A>C r.(?) p.(Lys231Gln) VUS
?/. 2 c.691A>C r.(?) p.(Lys231Gln) VUS
?/. 2 c.885del r.(?) p.(His296Thrfs*12) VUS
+/. 2 c.885del r.(?) p.(His296Thrfs*12) pathogenic
?/. 2 c.921_922insT r.(?) p.(Ile308Tyrfs*2) VUS
?/. 2 c.921_922insT r.(?) p.(Ile308Tyrfs*2) VUS
?/. 2 c.996C>T r.(?) p.(=) VUS
-?/. 2 c.996C>T r.(?) p.(=) likely benign
-?/. 2 c.996C>T r.(?) p.(=) likely benign
?/. 2 c.1168T>A r.(?) p.(Phe390Ile) VUS
?/. 2 c.1168T>A r.(?) p.(Phe390Ile) VUS
?/. 2 c.1234A>G r.(?) p.(Lys412Glu) VUS
+/. 2 c.1234A>G r.(?) p.(Lys412Glu) pathogenic
?/. 2 c.1234A>G r.(?) p.(Lys412Glu) VUS
+/. 2 c.1234A>G r.(?) p.(Lys412Glu) pathogenic
?/. 2 c.1234A>G r.(?) p.(Lys412Glu) VUS
?/. 2 c.1258G>A r.(?) p.(Val420Ile) VUS
-/. 2 c.1258G>A r.(?) p.(Val420Ile) benign
-/. 2 c.1258G>A r.(?) p.(Val420Ile) benign
-/. 2 c.1258G>A r.(?) p.(Val420Ile) benign
-/. 2 c.1258G>A r.(?) p.(Val420Ile) benign
-/. 2 c.1258G>A r.(?) p.(Val420Ile) benign
?/. 2 c.1258G>A r.(?) p.(Val420Ile) VUS
?/. 2 c.1288_1289insC r.(?) p.(Thr431Tyrfs*7) VUS
?/. 2 c.1288_1289insC r.(?) p.(Thr431Tyrfs*7) VUS
?/. 2 c.1474C>G r.(?) p.(Leu492Val) VUS
?/. 2 c.1474C>G r.(?) p.(Leu492Val) VUS
?/. 2 c.1496A>G r.(?) p.(Asn499Ser) VUS
+/. 2 c.1496A>G r.(?) p.(Asn499Ser) pathogenic
-?/. 2 c.1496A>G r.(?) p.(Asn499Ser) likely benign
?/. 2 c.1637G>T r.(?) p.(Arg546Ile) VUS
?/. 2 c.1637G>T r.(?) p.(Arg546Ile) VUS
?/. 2 c.1713_1714insG r.(?) p.(Trp572Valfs*5) VUS
?/. 2 c.1713_1714insG r.(?) p.(Trp572Valfs*5) VUS
?/. 2 c.1745_1746insA r.(?) p.(Lys583Glufs*6) VUS
?/. 2 c.1745_1746insA r.(?) p.(Lys583Glufs*6) VUS
?/. 2 c.1754_1755del r.(?) p.(Lys585Argfs*3) VUS
-?/. 2 c.1754_1755del r.(?) p.(Lys585Argfs*3) likely benign
?/. 2 c.1755dup r.(?) p.(Glu586Argfs*3) VUS
-?/. 2 c.1755dup r.(?) p.(Glu586Argfs*3) likely benign
?/. 2 c.1799G>A r.(?) p.(Arg600Gln) VUS
?/. 2 c.1799G>A r.(?) p.(Arg600Gln) VUS
?/. 2 c.1816A>C r.(?) p.(Thr606Pro) VUS
?/. 2 c.1816A>C r.(?) p.(Thr606Pro) VUS
?/. 2 c.1825A>C r.(?) p.(Ile609Leu) VUS
?/. 2 c.1870G>C r.(?) p.(Glu624Gln) VUS
+/. 2 c.1870G>C r.(?) p.(Glu624Gln) pathogenic
+/. 2 c.1870G>C r.(?) p.(Glu624Gln) pathogenic
-?/. 2 c.1870G>C r.(?) p.(Glu624Gln) likely benign
-?/. 2 c.1870G>C r.(?) p.(Glu624Gln) likely benign
?/. 2 c.1901_1902del r.(?) p.(Gly634Alafs*11) VUS
+/. 2 c.1901_1902del r.(?) p.(Gly634Alafs*11) pathogenic
+/. 2 c.1901_1902del r.(?) p.(Gly634Alafs*11) pathogenic
?/. 2 c.1939C>T r.(?) p.(Arg647Cys) VUS
+/. 2 c.1939C>T r.(?) p.(Arg647Cys) pathogenic
-/. 2 c.1939C>T r.(?) p.(Arg647Cys) benign
-/. 2 c.1939C>T r.(?) p.(Arg647Cys) benign
-/. 2 c.1939C>T r.(?) p.(Arg647Cys) benign
+?/. 2 c.1939C>T r.(?) p.(Arg647Cys) likely pathogenic
-/. 2 c.1939C>T r.(?) p.(Arg647Cys) benign
?/. 2 c.1939C>T r.(?) p.(Arg647Cys) VUS
+/. 2 c.1939C>T r.(?) p.(Arg647Cys) pathogenic
-/. 2 c.1939C>T r.(?) p.(Arg647Cys) benign
-/. 2 c.1939C>T r.(?) p.(Arg647Cys) benign
-/. 2 c.1939C>T r.(?) p.(Arg647Cys) benign
+?/. 2 c.1939C>T r.(?) p.(Arg647Cys) likely pathogenic
-/. 2 c.1939C>T r.(?) p.(Arg647Cys) benign
?/. 2 c.1939C>T r.(?) p.(Arg647Cys) VUS
?/. 2 c.1940G>A r.(?) p.(Arg647His) VUS
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